Incidental Mutation 'R1142:Alx3'
ID102147
Institutional Source Beutler Lab
Gene Symbol Alx3
Ensembl Gene ENSMUSG00000014603
Gene Namearistaless-like homeobox 3
Synonyms
MMRRC Submission 039215-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R1142 (G1)
Quality Score225
Status Not validated
Chromosome3
Chromosomal Location107595031-107605776 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 107600664 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Serine at position 163 (F163S)
Ref Sequence ENSEMBL: ENSMUSP00000014747 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014747]
Predicted Effect possibly damaging
Transcript: ENSMUST00000014747
AA Change: F163S

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000014747
Gene: ENSMUSG00000014603
AA Change: F163S

DomainStartEndE-ValueType
low complexity region 12 28 N/A INTRINSIC
low complexity region 32 48 N/A INTRINSIC
low complexity region 90 102 N/A INTRINSIC
HOX 153 215 1.06e-25 SMART
low complexity region 248 258 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 92.9%
Validation Efficiency
MGI Phenotype FUNCTION: This gene belongs to Group 1 of aristaless-like genes, which are characterized by the presence of an aristaless domain and a conserved paired-like homeodomain. The encoded protein acts as a transcriptional regulator. The protein plays a role in the development of craniofacial and appendicular skeleton and may have a role in pancreatic function. [provided by RefSeq, Apr 2013]
PHENOTYPE: Homozygous mutation of this gene results in defects in glucose metabolism. Mice homozygous for a reporter allele exhibit partial preweaning lethality, open neural tube and craniofacial defects in some mice. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh18a1 A G 19: 40,551,213 S773P probably damaging Het
Apobr A G 7: 126,587,482 M722V probably benign Het
Col6a5 A G 9: 105,934,317 S668P unknown Het
Cxadr A G 16: 78,334,839 T238A probably benign Het
Dph6 A G 2: 114,647,779 I27T probably damaging Het
Ephx3 G A 17: 32,185,274 H324Y probably benign Het
F830045P16Rik T A 2: 129,460,332 K447* probably null Het
Gjb3 G A 4: 127,326,431 R103W probably damaging Het
Hsp90ab1 C A 17: 45,568,974 E539* probably null Het
Jmjd1c T C 10: 67,225,345 L1159P probably damaging Het
Lamc3 T C 2: 31,940,721 I1490T probably damaging Het
Met T A 6: 17,527,183 C544* probably null Het
Pdlim3 C A 8: 45,918,961 R348S probably damaging Het
Phkg1 A G 5: 129,873,232 F101L possibly damaging Het
Polq A G 16: 37,013,217 M91V probably damaging Het
Slc38a9 T C 13: 112,714,210 I376T probably damaging Het
Tnc C T 4: 64,013,994 V728M probably damaging Het
Vmn1r85 T C 7: 13,084,554 N221S probably benign Het
Vmn2r91 T A 17: 18,136,443 W791R probably damaging Het
Zc3h13 T C 14: 75,315,984 Y284H probably benign Het
Other mutations in Alx3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01486:Alx3 APN 3 107604823 missense probably damaging 1.00
IGL02537:Alx3 APN 3 107604859 missense possibly damaging 0.76
R0003:Alx3 UTSW 3 107604976 missense probably damaging 1.00
R3791:Alx3 UTSW 3 107600706 missense probably damaging 1.00
R4322:Alx3 UTSW 3 107595375 missense probably benign
R4769:Alx3 UTSW 3 107600691 missense probably damaging 1.00
R4868:Alx3 UTSW 3 107600627 missense possibly damaging 0.58
R5072:Alx3 UTSW 3 107604793 missense possibly damaging 0.85
R5200:Alx3 UTSW 3 107600664 missense possibly damaging 0.95
R5640:Alx3 UTSW 3 107600661 missense probably damaging 1.00
R5801:Alx3 UTSW 3 107604941 nonsense probably null
R7538:Alx3 UTSW 3 107604364 missense probably damaging 1.00
R8002:Alx3 UTSW 3 107600739 nonsense probably null
X0066:Alx3 UTSW 3 107605079 makesense probably null
Z1177:Alx3 UTSW 3 107604834 missense probably damaging 1.00
Predicted Primers
Posted On2014-01-15